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NDAR provides a single access to de-identified autism research data. For permission to download data, you will need an NDAR account with approved access to NDAR or a connected repository (AGRE, IAN, or the ATP). For NDAR access, you need to be a research investigator sponsored by an NIH recognized institution with federal wide assurance. See Request Access for more information.

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1 Numbers reported are subjects by age
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Format should be in the following format: Activity Code, Institute Abbreviation, and Serial Number. Grant Type, Support Year, and Suffix should be excluded. For example, grant 1R01MH123456-01A1 should be entered R01MH123456

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General

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Funding Source

The ability to associate the funding source for the project is provided. For NIH funded grants, linkage to Project Reporter information (e.g. R01MH123456) is supported. Projects funded by others, including the URL of the project, are listed. Non NIH funded projects will become available here to link that data with the appropriate funding agency.

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For clinical trials, the option to link to the clinical trial in clinicaltrials.gov is optionally provided.

Collection Summary Collection Charts
Collection Title Collection Investigators Collection Description
Biomarkers of Autism at 12 Months: From Brain Overgrowth to Genes
Eric Courchesne, Karen Pierce and others. 
Behavioral data from the UCSD Autism Center of Excellence. This first data deposit will include Mullen Scales of Early Learning Scores from infants ages 12-36 months who are part of the ACE. Infants represent those at risk for an ASD, language delay (LD) and developmental delay (DD). Normal control data will be deposited as well. **NOTE: Headers from imaging data submitted to this collection contained Personally Identifiable Information (PII) and have been cleaned by NDA Staff**
NDAR
Closed
Shared
$10,322,836.00
870
420
639
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NIH - Extramural None


P50MH081755-01 Biomarkers of Autism at 12 months: From Brain Overgrowth to Genes 08/06/2007 07/31/2012 420 639 UNIVERSITY OF CALIFORNIA SAN DIEGO $10,322,836.00

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Experiments

To create a new Omics, eye tracking, fMRI, or EEG experiment, press the "+ New Experiment" button. Once an experiment is created, then raw files for these types of experiments should be provided, associating the experiment – through Experiment_ID – with the metadata defined in the experiments interface.

IDNameCreated DateStatusType
116Gene Expression Analysis WG-601/07/2014ApprovedOmics
155Resting07/25/2014ApprovedfMRI
156Speech07/25/2014ApprovedfMRI
159Emotion07/25/2014ApprovedfMRI
157Social Orienting07/25/2014ApprovedfMRI
158Word Language07/25/2014ApprovedfMRI
163Gene Expression Analysis HT-1208/08/2014ApprovedOmics

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Shared Data

Data structures with the number of subjects submitted and shared are provided.

ACE Subject Physical Exam Clinical Assessments 607
Autism Diagnostic Interview, Revised (ADI-R) Clinical Assessments 73
Autism Diagnostic Observation Schedule (ADOS) Toddler Clinical Assessments 610
Autism Diagnostic Observation Schedule (ADOS)- Module 1 Clinical Assessments 318
Autism Diagnostic Observation Schedule (ADOS)- Module 2 Clinical Assessments 238
CSBS DP Infant-Toddler Checklist Clinical Assessments 590
Genomics Sample Genomics 217
Genomics Subject Genomics 217
Height and Weight Clinical Assessments 477
Image Imaging 364
MacArthur-Bates CDI - Words and Gestures Form Clinical Assessments 596
MacArthur-Bates CDI - Words and Sentences Form Clinical Assessments 462
Modified CHARGE Family Medical History (2007) Clinical Assessments 517
Mullen Scales of Early Learning Clinical Assessments 782
Research Subject Clinical Assessments 776
Vineland-II - Parent and Caregiver Rating Form (2005) Clinical Assessments 721

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Publications

Publications relevant to NDAR data are listed below. Most displayed publications have been associated with the grant within Pubmed. Use the "+ New Publication" button to add new publications. Publications relevant/not relevant to data expected are categorized. Relevant publications are then linked to the underlying data by selecting the Create Study link. Study provides the ability to define cohorts, assign subjects, define outcome measures and lists the study type, data analysis and results. Analyzed data and results are expected in this way.

PubMed IDStudyTitleJournalAuthorsDateStatus
28202133Create StudyToddlers later diagnosed with autism exhibit multiple structural abnormalities in temporal corpus callosum fibers.Cortex; a journal devoted to the study of the nervous system and behaviorFingher N, Dinstein I, Ben-Shachar M, Haar S, Dale AM, Eyler L, Pierce K, Courchesne EJanuary 2017Not Determined
26668231Create StudyCell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers.Molecular systems biologyPramparo T, Lombardo MV, Campbell K, Barnes CC, Marinero S, Solso S, Young J, Mayo M, Dale A, Ahrens-Barbeau C, Murray SS, Lopez L, Lewis N, Pierce K, Courchesne EDecember 2015Not Determined
26300272Create StudyDiffusion Tensor Imaging Provides Evidence of Possible Axonal Overconnectivity in Frontal Lobes in Autism Spectrum Disorder Toddlers.Biological psychiatrySolso S, Xu R, Proudfoot J, Hagler DJ, Campbell K, Venkatraman V, Carter Barnes C, Ahrens-Barbeau C, Pierce K, Dale A, Eyler L, Courchesne EJuly 4, 2015Not Determined
25981170Create StudyEye Tracking Reveals Abnormal Visual Preference for Geometric Images as an Early Biomarker of an Autism Spectrum Disorder Subtype Associated With Increased Symptom Severity.Biological psychiatryPierce K, Marinero S, Hazin R, Mckenna B, Barnes CC, Malige AApril 2016Not Determined
25864635Create StudyDifferent functional neural substrates for good and poor language outcome in autism.NeuronLombardo MV, Pierce K, Eyler LT, Carter Barnes C, Ahrens-Barbeau C, Solso S, Campbell K, Courchesne EApril 22, 2015Not Determined
25739104Create StudyPrediction of autism by translation and immune/inflammation coexpressed genes in toddlers from pediatric community practices.JAMA psychiatryPramparo T, Pierce K, Lombardo MV, Carter Barnes C, Marinero S, Ahrens-Barbeau C, Murray SS, Lopez L, Xu R, Courchesne EApril 2015Not Determined
24711926Create StudyMeasuring outcome in an early intervention program for toddlers with autism spectrum disorder: use of a curriculum-based assessment.Autism research and treatmentBacon EC, Dufek S, Schreibman L, Stahmer AC, Pierce K, Courchesne E2014Not Determined
24670167Create StudyPatches of disorganization in the neocortex of children with autism.The New England journal of medicineStoner R, Chow ML, Boyle MP, Sunkin SM, Mouton PR, Roy S, Wynshaw-Boris A, Colamarino SA, Lein ES, Courchesne EMarch 27, 2014Not Relevant
24055786Create StudyAcute prenatal exposure to a moderate dose of valproic acid increases social behavior and alters gene expression in rats.International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceCohen OS, Varlinskaya EI, Wilson CA, Glatt SJ, Mooney SMDecember 2013Not Relevant
23828104Create StudyHigher rates of decline for women and apolipoprotein E epsilon4 carriers.AJNR. American journal of neuroradiologyHolland D, Desikan RS, Dale AM, McEvoy LKDecember 2013Not Determined
23727317Create StudyIntrinsic connectivity network mapping in young children during natural sleep.NeuroImageManning JH, Courchesne E, Fox PTDecember 2013Not Relevant
23650250Create StudyBlood-based gene-expression predictors of PTSD risk and resilience among deployed marines: a pilot study.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsGlatt SJ, Tylee DS, Chandler SD, Pazol J, Nievergelt CM, Woelk CH, Baker DG, Lohr JB, Kremen WS, Litz BT, Tsuang MT, Nash WPGeyer MAHammer PSLarsen GEO'Connor DTRisbrough VBSchork NJVasterling JJWebb-Murphy JAJune 2013Not Relevant
23637621Create StudyAll SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs.PLoS geneticsSchork AJ, Thompson WK, Pham P, Torkamani A, Roddey JC, Sullivan PF, Kelsoe JR, O'Donovan MC, Furberg H, Schork NJ, Andreassen OA, Dale AMApril 2013Not Relevant
23082203Create StudyEnrichment and stratification for predementia Alzheimer disease clinical trials.PloS oneHolland D, McEvoy LK, Desikan RS, Dale AM2012Not Relevant
23062752Create StudyTranscriptomic analysis of postmortem brain identifies dysregulated splicing events in novel candidate genes for schizophrenia.Schizophrenia researchCohen OS, Mccoy SY, Middleton FA, Bialosuknia S, Zhang-James Y, Liu L, Tsuang MT, Faraone SV, Glatt SJDecember 2012Not Relevant
22917206Create StudyBlood-based gene expression signatures of infants and toddlers with autism.Journal of the American Academy of Child and Adolescent PsychiatryGlatt SJ, Tsuang MT, Winn M, Chandler SD, Collins M, Lopez L, Weinfeld M, Carter C, Schork N, Pierce K, Courchesne ESeptember 2012Not Determined
22876315Create StudyRates of decline in Alzheimer disease decrease with age.PloS oneHolland D, Desikan RS, Dale AM, McEvoy LK2012Not Relevant
22822038Create StudyDiencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.Brain : a journal of neurologyZaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AMAugust 2012Not Relevant
22457638Create StudyAge-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.PLoS geneticsChow ML, Pramparo T, Winn ME, Barnes CC, Li HR, Weiss L, Fan JB, Murray S, April C, Belinson H, Fu XD, Wynshaw-Boris A, Schork NJ, Courchesne E2012Not Relevant
22375143Create StudyPreprocessing and Quality Control Strategies for Illumina DASL Assay-Based Brain Gene Expression Studies with Semi-Degraded Samples.Frontiers in geneticsChow ML, Winn ME, Li HR, April C, Wynshaw-Boris A, Fan JB, Fu XD, Courchesne E, Schork NJJanuary 2012Not Determined
22350062Study (356)A failure of left temporal cortex to specialize for language is an early emerging and fundamental property of autism.Brain : a journal of neurologyEyler LT, Pierce K, Courchesne EMarch 2012Relevant
22343285Create StudyAssociation of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.Proceedings of the National Academy of Sciences of the United States of AmericaBakken TE, Roddey JC, Djurovic S, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Gruen JR, Jernigan TL, Kaufmann WE, Kenet T, Kennedy DN, Kuperman JM, Murray SS, Sowell ER, Rimol LM, Mattingsdal M, Melle I, Agartz I, Andreassen OA, Schork NJ, Dale AMMarch 6, 2012Not Relevant
22174699Create StudyAn assessment of the individual and collective effects of variants on height using twins and a developmentally informative study design.PLoS geneticsVrieze SI, McGue M, Miller MB, Legrand LN, Schork NJ, Iacono WGDecember 2011Not Relevant
22068992Create StudyNeuron number and size in prefrontal cortex of children with autism.JAMACourchesne E, Mouton PR, Calhoun ME, Semendeferi K, Ahrens-Barbeau C, Hallet MJ, Barnes CC, Pierce KNovember 9, 2011Not Relevant
22050848Create StudyThe utility of gene expression in blood cells for diagnosing neuropsychiatric disorders.International review of neurobiologyWoelk CH, Singhania A, Pérez-Santiago J, Glatt SJ, Tsuang MT2011Not Relevant
21972136Create StudySimilarities and differences in peripheral blood gene-expression signatures of individuals with schizophrenia and their first-degree biological relatives.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsGlatt SJ, Stone WS, Nossova N, Liew CC, Seidman LJ, Tsuang MTDecember 2011Not Relevant
21906392Create StudyGenome-wide expression assay comparison across frozen and fixed postmortem brain tissue samples.BMC genomicsChow ML, Li HR, Winn ME, April C, Barnes CC, Wynshaw-Boris A, Fan JB, Fu XD, Courchesne E, Schork NJ2011Not Relevant
21849792Create StudyA geographic cline of skull and brain morphology among individuals of European Ancestry.Human heredityBakken TE, Dale AM, Schork NJ2011Not Relevant
21843359Create StudyGene expression profiling of human whole blood samples with the Illumina WG-DASL assay.BMC genomicsWinn ME, Shaw M, April C, Klotzle B, Fan JB, Murray SS, Schork NJ2011Not Relevant
21839162Create StudyAnnotating individual human genomes.GenomicsTorkamani A, Scott-Van Zeeland AA, Topol EJ, Schork NJOctober 2011Not Relevant
21830259Create StudyUnbiased comparison of sample size estimates from longitudinal structural measures in ADNI.Human brain mappingHolland D, McEvoy LK, Dale AMNovember 2012Not Relevant
21826086Create StudyBackground gene expression networks significantly enhance drug response prediction by transcriptional profiling.The pharmacogenomics journalTorkamani A, Schork NJOctober 2012Not Relevant
21810643Create StudyAssociation of genetic variants on 15q12 with cortical thickness and cognition in schizophrenia.Archives of general psychiatryBakken TE, Bloss CS, Roddey JC, Joyner AH, Rimol LM, Djurovic S, Melle I, Sundet K, Agartz I, Andreassen OA, Dale AM, Schork NJAugust 2011Not Relevant
21695041Create StudyThe n-of-1 clinical trial: the ultimate strategy for individualizing medicine?Personalized medicineLillie EO, Patay B, Diamant J, Issell B, Topol EJ, Schork NJMarch 2011Not Relevant
21689606Create StudyDisrupted neural synchronization in toddlers with autism.NeuronDinstein I, Pierce K, Eyler L, Solso S, Malach R, Behrmann M, Courchesne EJune 23, 2011Not Determined
21532980Create StudyAlternatively Spliced Genes as Biomarkers for Schizophrenia, Bipolar Disorder and Psychosis: A Blood-Based Spliceome-Profiling Exploratory Study.Current pharmacogenomics and personalized medicineGlatt SJ, Chandler SD, Bousman CA, Chana G, Lucero GR, Tatro E, May T, Lohr JB, Kremen WS, Everall IP, Tsuang MTSeptember 2009Not Determined
21524759Create StudyDetecting, studying, and treating autism early: the one-year well-baby check-up approach.The Journal of pediatricsPierce K, Carter C, Weinfeld M, Desmond J, Hazin R, Bjork R, Gallagher NSeptember 2011Not Determined
21479135Create StudyEfficient and cost effective population resequencing by pooling and in-solution hybridization.PloS oneBansal V, Tewhey R, Leproust EM, Schork NJ2011Not Relevant
21438146Create StudyDysfunctional gene splicing as a potential contributor to neuropsychiatric disorders.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsGlatt SJ, Cohen OS, Faraone SV, Tsuang MTJune 2011Not Relevant
21388857Create StudyNonlinear registration of longitudinal images and measurement of change in regions of interest.Medical image analysisHolland D, Dale AMAugust 2011Not Relevant
21301473Create StudyThe importance of phase information for human genomics.Nature reviews. GeneticsTewhey R, Bansal V, Torkamani A, Topol EJ, Schork NJMarch 2011Not Relevant
21121035Create StudyAn application and empirical comparison of statistical analysis methods for associating rare variants to a complex phenotype.Pacific Symposium on Biocomputing. Pacific Symposium on BiocomputingBansal V, Libiger O, Torkamani A, Schork NJ2011Not Relevant
21085054Create StudyFamily-based association testing of glutamate transporter genes in autism.Psychiatric geneticsJacob S, Brune CW, Badner JA, Ernstrom K, Courchesne E, Lord C, Leventhal BL, Cook EH, Kim SJAugust 2011Not Determined
20976246Create StudyA covering method for detecting genetic associations between rare variants and common phenotypes.PLoS computational biologyBhatia G, Bansal V, Harismendy O, Schork NJ, Topol EJ, Frazer K, Bafna V2010Not Relevant
20940738Create StudyStatistical analysis strategies for association studies involving rare variants.Nature reviews. GeneticsBansal V, Libiger O, Torkamani A, Schork NJNovember 2010Not Relevant
20920490Create StudyBrain growth across the life span in autism: age-specific changes in anatomical pathology.Brain researchCourchesne E, Campbell K, Solso SMarch 22, 2011Not Determined
20869953Create StudyEarly functional brain development in autism and the promise of sleep fMRI.Brain researchPierce KMarch 22, 2011Not Relevant
20819977Create StudyPreference for geometric patterns early in life as a risk factor for autism.Archives of general psychiatryPierce K, Conant D, Hazin R, Stoner R, Desmond JJanuary 2011Not Relevant
20709627Create StudyContemporary human genetic strategies in aging research.Ageing research reviewsBloss CS, Pawlikowska L, Schork NJApril 2011Not Relevant
20552680Create StudyPositive symptoms of psychosis correlate with expression of ubiquitin proteasome genes in peripheral blood.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsBousman CA, Chana G, Glatt SJ, Chandler SD, May T, Lohr J, Kremen WS, Tsuang MT, Everall IPOctober 5, 2010Not Relevant
20473674Create StudyThe effects of globin on microarray-based gene expression analysis of mouse blood.Mammalian genome : official journal of the International Mammalian Genome SocietyWinn ME, Zapala MA, Hovatta I, Risbrough VB, Lillie E, Schork NJJune 2010Not Relevant
20433907Create StudyHuman behavioral informatics in genetic studies of neuropsychiatric disease: multivariate profile-based analysis.Brain research bulletinBloss CS, Schiabor KM, Schork NJSeptember 30, 2010Not Relevant
20423962Create StudyCurve-based multivariate distance matrix regression analysis: application to genetic association analyses involving repeated measures.Physiological genomicsSalem RM, O'Connor DT, Schork NJJuly 7, 2010Not Relevant
20407100Create StudyExtremes of unexplained variation as a phenotype: an efficient approach for genome-wide association studies of cardiovascular disease.Circulation. Cardiovascular geneticsLanktree MB, Hegele RA, Schork NJ, Spence JDApril 2010Not Relevant
20385893Create StudyContrasting gray and white matter changes in preclinical Huntington disease: an MRI study.NeurologyStoffers D, Sheldon S, Kuperman JM, Goldstein J, Corey-Bloom J, Aron ARApril 13, 2010Not Relevant
20335478Create StudyLongitudinal magnetic resonance imaging study of cortical development through early childhood in autism.The Journal of neuroscience : the official journal of the Society for NeuroscienceSchumann CM, Bloss CS, Barnes CC, Wideman GM, Carper RA, Akshoomoff N, Pierce K, Hagler D, Schork N, Lord C, Courchesne EMarch 24, 2010Not Determined
20309761Create StudyGenotype-based risk and pharmacogenetic sampling in clinical trials.Journal of biopharmaceutical statisticsSchork NJ, Topol EJMarch 2010Not Relevant
20067366Create StudyComparison of genetic distance measures using human SNP genotype data.Human biologyLibiger O, Nievergelt CM, Schork NJAugust 2009Not Relevant
19996185Create StudySubregional neuroanatomical change as a biomarker for Alzheimer's disease.Proceedings of the National Academy of Sciences of the United States of AmericaHolland D, Brewer JB, Hagler DJ, Fennema-Notestine C, Fenema-Notestine C, Dale AMDecember 8, 2009Not Relevant
19935738Create StudyMaternal transmission of a rare GABRB3 signal peptide variant is associated with autism.Molecular psychiatryDelahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH, Macdonald RL, Sutcliffe JSJanuary 2011Not Relevant
19758535Create StudyThe power and promise of identifying autism early: insights from the search for clinical and biological markers.Annals of clinical psychiatry : official journal of the American Academy of Clinical PsychiatristsPierce K, Glatt SJ, Liptak GS, McIntyre LL2009 Jul-SepNot Determined
19726029Create StudyAmygdala enlargement in toddlers with autism related to severity of social and communication impairments.Biological psychiatrySchumann CM, Barnes CC, Lord C, Courchesne ENovember 15, 2009Not Determined
19667321Create StudyRegional rates of neocortical atrophy from normal aging to early Alzheimer disease.NeurologyMcDonald CR, McEvoy LK, Gharapetian L, Fennema-Notestine C, Hagler DJ, Holland D, Koyama A, Brewer JB, Dale AMAugust 11, 2009Not Relevant
19582768Create StudyPreliminary evidence of ubiquitin proteasome system dysregulation in schizophrenia and bipolar disorder: convergent pathway analysis findings from two independent samples.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsBousman CA, Chana G, Glatt SJ, Chandler SD, Lucero GR, Tatro E, May T, Lohr JB, Kremen WS, Tsuang MT, Everall IPMarch 5, 2010Not Relevant
19574499Create StudyIdentification of rare cancer driver mutations by network reconstruction.Genome researchTorkamani A, Schork NJSeptember 2009Not Relevant
19549629Create StudyPrestige centrality-based functional outlier detection in gene expression analysis.Bioinformatics (Oxford, England)Torkamani A, Schork NJSeptember 1, 2009Not Relevant
19481926Create StudyCommon vs. rare allele hypotheses for complex diseases.Current opinion in genetics & developmentSchork NJ, Murray SS, Frazer KA, Topol EJJune 2009Not Relevant
19186126Create StudyComputational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability.Biophysical journalDixit A, Torkamani A, Schork NJ, Verkhivker GFebruary 2009Not Relevant
18722519Create StudyPathway analysis of seven common diseases assessed by genome-wide association.GenomicsTorkamani A, Topol EJ, Schork NJNovember 2008Not Relevant
18562267Create StudyPredicting functional regulatory polymorphisms.Bioinformatics (Oxford, England)Torkamani A, Schork NJAugust 15, 2008Not Relevant
17964254Create StudyMapping early brain development in autism.NeuronCourchesne E, Pierce K, Schumann CM, Redcay E, Buckwalter JA, Kennedy DP, Morgan JOctober 25, 2007Not Relevant
help.tab.dataexpected

Relevant Publications
PubMed IDStudyTitleJournalAuthorsDate
No records found.
help.tab.dataexpected.addnew
Data Expected
Data ExpectedTargeted EnrollmentInitial SubmissionSubjects SharedStatus
genomics/omics info iconApproved
ADOS info iconApproved
Medical History info iconApproved
Vineland (Parent and Caregiver) info iconApproved
ADI-R info iconApproved
Research Subject and Pedigree info iconApproved
Communication and Symbolic Behavior Scales (CSBS) info iconApproved
MacArthur Bates Communicative Development Inventory info iconApproved
Mullen Scales of Early Learning info iconApproved
Physical Exam info iconApproved
Imaging (Structural, fMRI, DTI, PET, microscopy) info iconApproved
Structure not yet defined

Collection Owners and those with Collection Administrator permission, may edit a collection. The following is currently available for Edit on this page:

Associated Studies

Studies that have been defined using data from a Collection are important criteria to determine the value of data shared. The number of subjects column displays the counts from this Collection that are included in a Study, out of the total number of subjects in that study. The Data Use column represents whether or not the study is a primary analysis of the data or a secondary analysis. State indicates whether the study is private or shared with the research community.

Study Name Description Number of Subjects
Collection / Total
Data Use State
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex families NOTE: NOT ALL DATA HAS BEEN UPLOADED FOR THIS STUDY. Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families. We observed a higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings (odds ratio [OR] = 1.7), but the rate of de novo events was significantly lower than in simplex families. In previously characterized ASD risk loci, we identified 49 CNVs, comprising 24 inherited events, 19 de novo events, and 6 events of unknown inheritance, a significant enrichment in affected versus control individuals (OR = 3.3). In 21 of the 30 families (71%) in whom at least one affected sibling harbored an established ASD major risk CNV, including five families harboring inherited CNVs, the CNV was not shared by all affected siblings, indicating that other risk factors are contributing. We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX. The genetic architecture in multiplex families differs from that in simplex families and is complex, warranting more complete genetic characterization of larger multiplex ASD cohorts. 2 / 5288 Primary Analysis Shared
* Data not on individual level
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